SNP Links for Gene (Select 150483) - SNP

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Select item 14912196791.

rs1491219679 has merged into rs11483811 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCC>-,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
Chromosome:: 2:94872133 (GRCh38)
2:95537878 (GRCh37)
Canonical SPDI:: NC_000002.12:94872126:CCCCCCCCCCC:CCCCCC,NC_000002.12:94872126:CCCCCCCCCCC:CCCCCCCCC,NC_000002.12:94872126:CCCCCCCCCCC:CCCCCCCCCC,NC_000002.12:94872126:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:94872126:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:94872126:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000002.12:94872126:CCCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0.0001/1 (ALFA)
-=0.10623/532 (1000Genomes)
HGVS:: NC_000002.12:g.94872133_94872137del, NC_000002.12:g.94872136_94872137del, NC_000002.12:g.94872137del, NC_000002.12:g.94872137dup, NC_000002.12:g.94872136_94872137dup, NC_000002.12:g.94872135_94872137dup, NC_000002.12:g.94872134_94872137dup, NC_000002.11:g.95537878_95537882del, NC_000002.11:g.95537881_95537882del, NC_000002.11:g.95537882del, NC_000002.11:g.95537882dup, NC_000002.11:g.95537881_95537882dup, NC_000002.11:g.95537880_95537882dup, NC_000002.11:g.95537879_95537882dup, NW_003571032.1:g.309709_309713del, NW_003571032.1:g.309712_309713del, NW_003571032.1:g.309713del, NW_003571032.1:g.309713dup, NW_003571032.1:g.309712_309713dup, NW_003571032.1:g.309711_309713dup, NW_003571032.1:g.309710_309713dup

Select item 14911427302.

rs1491142730 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,T [Show Flanks]
Chromosome:: 2:94872127 (GRCh38)
2:95537873 (GRCh37)
Canonical SPDI:: NC_000002.12:94872127::G,NC_000002.12:94872127::T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.94872127_94872128insG, NC_000002.12:g.94872127_94872128insT, NC_000002.11:g.95537872_95537873insG, NC_000002.11:g.95537872_95537873insT, NW_003571032.1:g.309703_309704insG, NW_003571032.1:g.309703_309704insT

Select item 14909423273.

rs1490942327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94872691 (GRCh38)
2:95538436 (GRCh37)
Canonical SPDI:: NC_000002.12:94872690:T:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.94872691T>C, NC_000002.11:g.95538436T>C, NW_003571032.1:g.310267T>C

Select item 14909083904.

rs1490908390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:94872128 (GRCh38)
2:95537873 (GRCh37)
Canonical SPDI:: NC_000002.12:94872127:C:A,NC_000002.12:94872127:C:G,NC_000002.12:94872127:C:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.94872128C>A, NC_000002.12:g.94872128C>G, NC_000002.12:g.94872128C>T, NC_000002.11:g.95537873C>A, NC_000002.11:g.95537873C>G, NC_000002.11:g.95537873C>T, NW_003571032.1:g.309704C>A, NW_003571032.1:g.309704C>G, NW_003571032.1:g.309704C>T

Select item 14906537555.

rs1490653755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:94875858 (GRCh38)
2:95541603 (GRCh37)
Canonical SPDI:: NC_000002.12:94875857:G:A,NC_000002.12:94875857:G:C,NC_000002.12:94875857:G:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.94875858G>A, NC_000002.12:g.94875858G>C, NC_000002.12:g.94875858G>T, NC_000002.11:g.95541603G>A, NC_000002.11:g.95541603G>C, NC_000002.11:g.95541603G>T, NW_003571032.1:g.313434G>A, NW_003571032.1:g.313434G>C, NW_003571032.1:g.313434G>T

Select item 14906159966.

rs1490615996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:94866522 (GRCh38)
2:95532267 (GRCh37)
Canonical SPDI:: NC_000002.12:94866521:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.94866522A>G, NC_000002.11:g.95532267A>G, NW_003571032.1:g.304098A>G

Select item 14905976427.

rs1490597642 has merged into rs879978264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:94875928 (GRCh38)
2:95541673 (GRCh37)
Canonical SPDI:: NC_000002.12:94875927:G:A,NC_000002.12:94875927:G:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.94875928G>A, NC_000002.12:g.94875928G>C, NC_000002.11:g.95541673G>A, NC_000002.11:g.95541673G>C, NW_003571032.1:g.313504G>A, NW_003571032.1:g.313504G>C

Select item 14904172938.

rs1490417293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:94871921 (GRCh38)
2:95537666 (GRCh37)
Canonical SPDI:: NC_000002.12:94871920:G:A,NC_000002.12:94871920:G:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000106/2 (TOMMO)
A=0.000343/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.94871921G>A, NC_000002.12:g.94871921G>T, NC_000002.11:g.95537666G>A, NC_000002.11:g.95537666G>T, NW_003571032.1:g.309497G>A, NW_003571032.1:g.309497G>T, NM_144705.4:c.342G>A, NM_144705.4:c.342G>T, NM_144705.3:c.342G>A, NM_144705.3:c.342G>T, NM_144705.2:c.342G>A, NM_144705.2:c.342G>T, XM_005263876.4:c.342G>A, XM_005263876.4:c.342G>T, XM_005263876.3:c.342G>A, XM_005263876.3:c.342G>T, XM_005263876.2:c.342G>A, XM_005263876.2:c.342G>T, XM_005263876.1:c.342G>A, XM_005263876.1:c.342G>T, XM_011510670.3:c.342G>A, XM_011510670.3:c.342G>T, XM_011510670.2:c.342G>A, XM_011510670.2:c.342G>T, XM_011510670.1:c.342G>A, XM_011510670.1:c.342G>T, NM_001286559.2:c.-908G>A, NM_001286559.2:c.-908G>T, NM_001286559.1:c.-908G>A, NM_001286559.1:c.-908G>T

Select item 14902724159.

rs1490272415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:94867216 (GRCh38)
2:95532961 (GRCh37)
Canonical SPDI:: NC_000002.12:94867215:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.94867216G>A, NC_000002.11:g.95532961G>A, NW_003571032.1:g.304792G>A

Select item 149009254610.

rs1490092546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:94872303 (GRCh38)
2:95538048 (GRCh37)
Canonical SPDI:: NC_000002.12:94872302:T:A,NC_000002.12:94872302:T:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.94872303T>A, NC_000002.12:g.94872303T>C, NC_000002.11:g.95538048T>A, NC_000002.11:g.95538048T>C, NW_003571032.1:g.309879T>A, NW_003571032.1:g.309879T>C

Select item 148983890711.

rs1489838907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:94867675 (GRCh38)
2:95533420 (GRCh37)
Canonical SPDI:: NC_000002.12:94867674:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.94867675C>T, NC_000002.11:g.95533420C>T, NW_003571032.1:g.305251C>T

Select item 148978338212.

rs1489783382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:94873398 (GRCh38)
2:95539143 (GRCh37)
Canonical SPDI:: NC_000002.12:94873397:G:A
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000071/10 (GnomAD)
A=0.000113/30 (TOPMED)
HGVS:: NC_000002.12:g.94873398G>A, NC_000002.11:g.95539143G>A, NW_003571032.1:g.310974G>A, NM_001286559.2:c.-170G>A, NM_001286559.1:c.-170G>A, NR_037597.1:n.1308C>T

Select item 148977077013.

rs1489770770 has merged into rs35028272 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 2:94866831 (GRCh38)
2:95532576 (GRCh37)
Canonical SPDI:: NC_000002.12:94866819:TCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000002.12:94866819:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000002.12:94866819:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
TC=0.00006/1 (TOMMO)
-=0.08717/87 (GoNL)
HGVS:: NC_000002.12:g.94866821CT[5], NC_000002.12:g.94866821CT[6], NC_000002.12:g.94866821CT[8], NC_000002.11:g.95532566CT[5], NC_000002.11:g.95532566CT[6], NC_000002.11:g.95532566CT[8], NW_003571032.1:g.304397CT[5], NW_003571032.1:g.304397CT[6], NW_003571032.1:g.304397CT[8]

Select item 148954124714.

rs1489541247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:94870985 (GRCh38)
2:95536730 (GRCh37)
Canonical SPDI:: NC_000002.12:94870984:G:A
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.94870985G>A, NC_000002.11:g.95536730G>A, NW_003571032.1:g.308561G>A

Select item 148922759915.

rs1489227599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94868532 (GRCh38)
2:95534277 (GRCh37)
Canonical SPDI:: NC_000002.12:94868531:T:C
Gene:: LOC442028 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000071/1 (TOMMO)
C=0.000098/26 (TOPMED)
C=0.000546/1 (Korea1K)
C=0.001027/3 (KOREAN)
HGVS:: NC_000002.12:g.94868532T>C, NC_000002.11:g.95534277T>C, NW_003571032.1:g.306108T>C

Select item 148911315816.

rs1489113158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:94867601 (GRCh38)
2:95533346 (GRCh37)
Canonical SPDI:: NC_000002.12:94867600:C:A,NC_000002.12:94867600:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.94867601C>A, NC_000002.12:g.94867601C>T, NC_000002.11:g.95533346C>A, NC_000002.11:g.95533346C>T, NW_003571032.1:g.305177C>A, NW_003571032.1:g.305177C>T

Select item 148882610117.

rs1488826101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:94873333 (GRCh38)
2:95539078 (GRCh37)
Canonical SPDI:: NC_000002.12:94873332:C:A,NC_000002.12:94873332:C:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.94873333C>A, NC_000002.12:g.94873333C>T, NC_000002.11:g.95539078C>A, NC_000002.11:g.95539078C>T, NW_003571032.1:g.310909C>A, NW_003571032.1:g.310909C>T, NM_001286559.2:c.-235C>A, NM_001286559.2:c.-235C>T, NM_001286559.1:c.-235C>A, NM_001286559.1:c.-235C>T

Select item 148843751218.

rs1488437512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:94876511 (GRCh38)
2:95542256 (GRCh37)
Canonical SPDI:: NC_000002.12:94876510:T:C
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.94876511T>C, NC_000002.11:g.95542256T>C, NW_003571032.1:g.314087T>C

Select item 148838557519.

rs1488385575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:94877200 (GRCh38)
2:95542945 (GRCh37)
Canonical SPDI:: NC_000002.12:94877199:G:A
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000002.12:g.94877200G>A, NC_000002.11:g.95542945G>A, NW_003571032.1:g.314776G>A

Select item 148828242020.

rs1488282420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:94874425 (GRCh38)
2:95540170 (GRCh37)
Canonical SPDI:: NC_000002.12:94874424:G:A,NC_000002.12:94874424:G:C,NC_000002.12:94874424:G:T
Gene:: TEKT4 (Varview), LOC442028 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.94874425G>A, NC_000002.12:g.94874425G>C, NC_000002.12:g.94874425G>T, NC_000002.11:g.95540170G>A, NC_000002.11:g.95540170G>C, NC_000002.11:g.95540170G>T, NW_003571032.1:g.312001G>A, NW_003571032.1:g.312001G>C, NW_003571032.1:g.312001G>T

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